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Your search keyword '"N. Malchin"' showing total 7 results
Start Over Author "N. Malchin" Journal clinical and experimental dermatology
7 results on '"N. Malchin"'

1. PLACK syndrome shows remarkable phenotypic homogeneity

Author

N. Malchin, Liat Samuelov, D. Ben‐Amitai, Eli Sprecher, J. Mohamad, and Ofer Sarig

Subjects
Male, Homogeneity (statistics), Calcium-Binding Proteins, Mutagenesis (molecular biology technique), Skin Diseases, Genetic, Dermatology, Computational biology, Keratosis, Syndrome, Biology, Middle Aged, Phenotype, Pedigree, Mutagenesis, Insertional, Cheilitis, Humans, Genetic diagnosis, Skin pathology, Dermatitis, Exfoliative, Skin
Published
2018

2. Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

Author

Meital Grafi-Cohen, Eli Sprecher, Alon Peled, N. Malchin, Dan Vodo, Liat Samuelov, and Ofer Sarig

Subjects
0301 basic medicine, Biopsy, Nonsense mutation, Hyperkeratosis, DNA Mutational Analysis, Dermatology, Protein degradation, Biology, medicine.disease_cause, 030207 dermatology & venereal diseases, 03 medical and health sciences, Exon, 0302 clinical medicine, Keratin, medicine, Humans, Child, Gene, Skin, Genetics, chemistry.chemical_classification, Mutation, Hyperkeratosis, Epidermolytic, Keratin-10, medicine.disease, genomic DNA, 030104 developmental biology, chemistry, Codon, Nonsense, Female
Abstract

Epidermolytic ichthyosis (EI) is a rare skin disorder caused by mutations in the genes KRT1 and KRT10, and is usually inherited in an autosomal dominant fashion. Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT10 gene. In the current study, we aimed to identify the genetic defect underlying EI in a 12-year-old patient. Direct sequencing of the patient's genomic DNA revealed a novel homozygous nonsense mutation residing within the proximal part KRT10 first exon. The mutation was found to co-segregate with the disease phenotype in an autosomal recessive fashion. Using real-time quantitative PCR, we found an almost two-fold decrease in KRT10 expression in the patient's skin compared with the skin of healthy controls. Western blot analysis showed complete absence of keratin 10 protein in the patient's skin, suggesting early protein degradation.

Published
2017

3. A novel homozygous deletion in EXPH5 causes a skin fragility phenotype

Author

Andrea Gat, Meital Grafi-Cohen, Eli Sprecher, Jacob Mashiah, A. Shani, Shamir Geller, Ilan Goldberg, Ofer Sarig, and N. Malchin

Subjects
0301 basic medicine, Dermatology, Biology, Pathogenesis, 030207 dermatology & venereal diseases, 03 medical and health sciences, Epidermolysis bullosa simplex, symbols.namesake, Basal (phylogenetics), 0302 clinical medicine, Skin fragility, medicine, Humans, Gene, Adaptor Proteins, Signal Transducing, Sequence Deletion, Sanger sequencing, Genetics, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Epidermolysis Bullosa Simplex, symbols, Immunohistochemistry, Female
Abstract

Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis of different types of EBS, but a substantial portion of the cases cannot be attributed to mutations in known genes. Recently, recessive mutations in the gene EXPH5 (encoding exophilin-5, also known as Slac2-b) were identified in patients affected with a mild form of EBS. We used immunohistochemistry, Sanger sequencing and PCR-restriction fragment length polymorphism analysis to identify the cause of mild congenital skin fragility in a 3-year-old girl. No mutations were detected in KRT5 or KRT14, but we identified a novel homozygous deletion in EXPH5, which was found to cosegregate with the disease phenotype in the family. Our results further expand the spectrum of mutations in EXPH5. Appraisal of the present case against previously reported patients indicate that EXPH5 mutations result in a distinctive skin fragility phenotype, with minimal blistering compared with other forms of basal EBS.

Published
2015

5. PLACK syndrome shows remarkable phenotypic homogeneity.

Author

Mohamad J, Samuelov L, Ben-Amitai D, Malchin N, Sarig O, and Sprecher E

Subjects
Calcium-Binding Proteins genetics, Cheilitis genetics, Cheilitis pathology, Dermatitis, Exfoliative genetics, Dermatitis, Exfoliative pathology, Humans, Keratosis genetics, Keratosis pathology, Male, Middle Aged, Mutagenesis, Insertional genetics, Pedigree, Skin pathology, Skin Diseases, Genetic genetics, Skin Diseases, Genetic pathology, Syndrome, Cheilitis diagnosis, Dermatitis, Exfoliative diagnosis, Keratosis diagnosis, Skin Diseases, Genetic diagnosis
Published
2019
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6. Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.

Author

Vodo D, Sarig O, Peled A, Samuelov L, Malchin N, Grafi-Cohen M, and Sprecher E

Subjects
Biopsy, Child, DNA Mutational Analysis, Female, Humans, Hyperkeratosis, Epidermolytic metabolism, Hyperkeratosis, Epidermolytic pathology, Keratin-10 metabolism, Skin metabolism, Skin pathology, Codon, Nonsense, Hyperkeratosis, Epidermolytic genetics, Keratin-10 genetics
Abstract

Epidermolytic ichthyosis (EI) is a rare skin disorder caused by mutations in the genes KRT1 and KRT10, and is usually inherited in an autosomal dominant fashion. Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT10 gene. In the current study, we aimed to identify the genetic defect underlying EI in a 12-year-old patient. Direct sequencing of the patient's genomic DNA revealed a novel homozygous nonsense mutation residing within the proximal part KRT10 first exon. The mutation was found to co-segregate with the disease phenotype in an autosomal recessive fashion. Using real-time quantitative PCR, we found an almost two-fold decrease in KRT10 expression in the patient's skin compared with the skin of healthy controls. Western blot analysis showed complete absence of keratin 10 protein in the patient's skin, suggesting early protein degradation., (© 2017 British Association of Dermatologists.)

Published
2018
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7. A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.

Author

Malchin N, Sarig O, Grafi-Cohen M, Geller S, Goldberg I, Shani A, Gat A, Sprecher E, and Mashiah J

Subjects
Child, Preschool, Female, Humans, Adaptor Proteins, Signal Transducing genetics, Epidermolysis Bullosa Simplex genetics, Sequence Deletion
Abstract

Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis of different types of EBS, but a substantial portion of the cases cannot be attributed to mutations in known genes. Recently, recessive mutations in the gene EXPH5 (encoding exophilin-5, also known as Slac2-b) were identified in patients affected with a mild form of EBS. We used immunohistochemistry, Sanger sequencing and PCR-restriction fragment length polymorphism analysis to identify the cause of mild congenital skin fragility in a 3-year-old girl. No mutations were detected in KRT5 or KRT14, but we identified a novel homozygous deletion in EXPH5, which was found to cosegregate with the disease phenotype in the family. Our results further expand the spectrum of mutations in EXPH5. Appraisal of the present case against previously reported patients indicate that EXPH5 mutations result in a distinctive skin fragility phenotype, with minimal blistering compared with other forms of basal EBS., (© 2016 British Association of Dermatologists.)

Published
2016
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